Blood Cells Molecules and Diseases最新文献

{"title":"Corrigendum to “Clinical utility of relative telomere length analysis in pediatric bone marrow failure” [Blood Cells Mol. Dis. 109 (2024) 102882]","authors":"Shilpa Amatya , Prateek Bhatia , Sudhanshi Raina , Sreejesh Sreedharanunni , Minu Singh , Emine Rahman , M.V. Archana , Amita Trehan","doi":"10.1016/j.bcmd.2024.102899","DOIUrl":"10.1016/j.bcmd.2024.102899","url":null,"abstract":"","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"110 ","pages":"Article 102899"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142602975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Marked microcytosis and increased transferrin saturation: Think about variants in SLC11A2 (DMT1)","authors":"Alexandre Raynor ,&nbsp;Katell Peoc'h ,&nbsp;Camille Boi ,&nbsp;Hana Manceau ,&nbsp;Serge Pissard ,&nbsp;Karim Diallo ,&nbsp;Caroline Kannengiesser ,&nbsp;Pierre Rohrlich","doi":"10.1016/j.bcmd.2024.102898","DOIUrl":"10.1016/j.bcmd.2024.102898","url":null,"abstract":"<div><div>Congenital microcytic anemias are rare diseases associated with decreased hemoglobin synthesis and red blood cells of low corpuscular volume. DMT1/NRAMP2 is a highly conserved divalent cation transporter encoded by the <em>SLC11A2</em> gene, expressed at the membrane of various cells. It ensures ferrous iron absorption from the apical membrane of enterocytes, iron recovery from urine by renal tubules, and acidified endosome uptake after transferrin internalization. Pathogenic <em>DMT1</em> variants have been described in 10 individuals to date, associated with recessive hypochromic anemia and iron overload. Herein, we report a new variant of <em>SLC11A2</em> (c.469A&gt;G, p.Ile157Val) compound with known p.Arg416Cys associated with a frankly microcytic anemia and increased transferrin saturation. The clinical picture observed in the patient was exceptionally mild, extending the field of the DMT1 phenotypes to borderline anemias.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"110 ","pages":"Article 102898"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Red cell distribution width as a bellwether of prognosis","authors":"Marshall A. Lichtman","doi":"10.1016/j.bcmd.2024.102884","DOIUrl":"10.1016/j.bcmd.2024.102884","url":null,"abstract":"<div><p>The red cell distribution width (RDW) is a standard variable reported in the complete blood count. It has been found to have a consistent relationship to life expectancy in older individuals, prognosis in patients with cardiovascular disease, outcome in those with hematological and non-hematological neoplasms and in a variety of medical circumstances such as non-cardiovascular or cancer related critical illness and postoperative outcome from various procedures. This report reviews some of the key medical publications establishing these relationships with RDW. The precise pathobiological processes that explain the predictive value of the RDW in this wide array of circumstances or why an alteration in erythropoiesis (exaggerated red cell size variation) occurs is uncertain. The possible role of inflammation has been one hypothesis considered, but not established.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102884"},"PeriodicalIF":2.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142012225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical utility of relative telomere length analysis in pediatric bone marrow failure","authors":"Shilpa Amatya ,&nbsp;Prateek Bhatia ,&nbsp;Sudhanshi Raina ,&nbsp;Sreejesh Sreedharanunni ,&nbsp;Minu Singh ,&nbsp;Emine Rahman ,&nbsp;M.V. Archana ,&nbsp;Amita Trehan","doi":"10.1016/j.bcmd.2024.102882","DOIUrl":"10.1016/j.bcmd.2024.102882","url":null,"abstract":"<div><h3>Introduction</h3><p>Telomere length related studies are limited in pediatric marrow failure cases due to difficulty in establishing population specific age related normograms. Moreover, there is paucity of data related to clinical relevance of telomere length in idiopathic aplastic anemia (IAA) and non telomere biology inherited bone marrow failure syndrome (IBMFS) cases. Methodology: Hence, in current study we investigated Relative telomere length (RTL) by RQ-PCR in 83 samples as: healthy controls (<em>n</em> = 44), IAA (<em>n</em> = 15) and IBMFS (<em>n</em> = 24). In addition, we performed chromosomal breakage studies and targeted NGS to screen for pathogenic variants. Results &amp; Conclusion: Median RTL was significantly different between control vs. IBMFS (<em>p</em>-0.002), IAA vs. IBMFS (<em>p</em>-0.0075) and DC vs. non-DC IBMFS (<em>p</em>-0.011) but not between control vs. IAA (<em>p</em>-0.46). RTL analysis had clinical utility in differentiating BMF cases as 75 % (9/12) of DC had short/very short telomeres compared to only 17 % (2/12) of non-DC IBMFS, 7 % (1/15) of IAA and 7 % (3/44) of controls (<em>p</em> &lt; 0.001).</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102882"},"PeriodicalIF":2.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outpatient ATG-free hematopoietic transplantation for aplastic anemia in limited-resource environments offers excellent results: Data from a single LATAM center","authors":"José Carlos Jaime-Pérez,&nbsp;Mariana González-Treviño,&nbsp;Andrés Gómez-De León,&nbsp;Miguel A. Campos-Bocardo,&nbsp;Renata V. Barragán-Longoria,&nbsp;Olga Graciela Cantú-Rodríguez,&nbsp;César Homero Gutiérrez-Aguirre,&nbsp;David Gómez-Almaguer","doi":"10.1016/j.bcmd.2024.102885","DOIUrl":"10.1016/j.bcmd.2024.102885","url":null,"abstract":"<div><h3>Objective</h3><p>To document the results of outpatient hematopoietic stem cell transplantation (HSCT) from the peripheral blood (PB) of sibling donors without anti-thymocyte globulin (ATG) in the conditioning regimen.</p></div><div><h3>Material and methods</h3><p>Patients from a low-income population with severe AA who received a PB, unmanipulated sibling HLA-identical HSCT between 2000 and 2020 at a single institution were studied. Survival was the primary outcome.</p></div><div><h3>Results</h3><p>Forty-one transplants were performed. Time between diagnosis and transplant was five months (1–104). Median age was 37 (range, 4–61) years; 25 (61 %) recipients were males and 32 (78 %) had treatment failure, 9 (22 %) have not received treatment. ATG was administered in 5 (12.2 %) cases; the graft source was PB in 38 (92.7 %) transplants. Twenty-six (63.4 %) transplants were carried out in the outpatient setting. Infections developed in 14 (34.1 %) patients. Primary graft failure (GF) occurred in 3 (7.3 %) patients. The 15-year OS was 81 %, EFS was 77.4 %. Patients with high pre-HSCT transfusion burden had lower OS (<em>p</em> = 0.035) and EFS (<em>p</em> = 0.026). Previous treatment failure and age were not associated with lower OS (<em>p</em> = 0.115, <em>p</em> = 0.069) or EFS (<em>p</em> = 0.088, <em>p</em> = 0.5, respectively).</p></div><div><h3>Conclusions</h3><p>HLA-identical T-cell replete outpatient HSCT from the PB of sibling donors for AA patients using ATG-free conditioning offers excellent long-term survival.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102885"},"PeriodicalIF":2.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142049734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erythrocyte deformability correlates with systemic inflammation","authors":"Carmen Jacob ,&nbsp;Lakeesha Piyasundara ,&nbsp;Maria Bonello ,&nbsp;Michael Nathan ,&nbsp;Stefania Kaninia ,&nbsp;Aravinthan Varatharaj ,&nbsp;Noémi Roy ,&nbsp;Ian Galea","doi":"10.1016/j.bcmd.2024.102881","DOIUrl":"10.1016/j.bcmd.2024.102881","url":null,"abstract":"<div><p>Recent evidence suggests that systemic conditions, particularly those associated with inflammation, can affect erythrocyte deformability in the absence of haematological conditions. In this exploratory study, we investigated the relationship between systemic inflammatory status and erythrocyte deformability (using osmotic gradient ektacytometry) in a heterogenous study population consisting of individuals with no medical concerns, chronic conditions, and acute illness, providing a wide range of systemic inflammation severity.</p><p>22 participants were included in a prospective observational study. Maximum Elongation Index (EI_max) in ektacytometry served as the readout for erythrocyte deformability. Inflammatory status was assessed using C-reactive protein (CRP) and self-reported symptoms associated with inflammatory activation (Sickness Questionnaire Scores, SicknessQ).</p><p>In a univariate linear regression, both CRP and SicknessQ scores significantly predicted EI_max (CRP: F(1,20) = 7.751, <em>p</em> &lt; 0.05 (0.011), R² = 0.279; SicknessQ: F(1,18) = 4.831, p &lt; 0.05 (0.041), R² = 0.212). Sensitivity analyses with multivariable linear regression correcting for age showed concordant findings.</p><p>Results suggest a linear relationship between erythrocyte deformability and biochemical and clinical markers of systemic inflammation. Replication of findings in a larger study, and mechanisms and clinical consequences need further in investigation.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102881"},"PeriodicalIF":2.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1079979624000597/pdfft?md5=f23be722aa973fc8705021ee36b6de01&pid=1-s2.0-S1079979624000597-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141991059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection","authors":"Ping Guo ,&nbsp;Xi Wu ,&nbsp;Mingkang Yang,&nbsp;Yilun Xue,&nbsp;Jiakuan Zhou,&nbsp;Zhixi Huang,&nbsp;Wenman Wu,&nbsp;Jianbiao Wang","doi":"10.1016/j.bcmd.2024.102874","DOIUrl":"10.1016/j.bcmd.2024.102874","url":null,"abstract":"<div><p>Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disorder characterized by severe immunodeficiency, albinism and coagulation deficiency. Mostly diagnosed in early childhood, this devastating condition is associated with lysosomal abnormalities attributed to the absence or impaired function of lysosomal trafficking regulator caused by mutations in the <em>CHS1/LYST</em> gene. In current study, we report a case of late-onset CHS caused by two novel compound heterozygous <em>CHS1/LYST</em> mutations: c.8407C &gt; T, leading to early termination of translation at residue Gln2803 (p. Gln2803Ter), and a small deletion c. 4020_4031del, resulting in an in-frame deletion of three amino acid residues (p. Asp1343_Val1346del). Both variants retain a large part of the CHS/LYST protein, particularly p. Asp1343_Val1346del, which preserves critical functional BEACH and WD40 domains in the C terminal, potentially maintaining residual activity and alleviating patient symptoms. The timeline of SARS-CoV-2 infection and rapid symptom progression suggests that the viral infection may have trigger the accelerated phase development leading to a poor prognosis.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102874"},"PeriodicalIF":2.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141698963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sickle cell disease in Indian tribal population: Findings of a multi-centre Indian SCD registry","authors":"Yogita Sharma ,&nbsp;Deepa Bhat ,&nbsp;Parikipandla Sridevi ,&nbsp;Shaily B. Surti ,&nbsp;Manoranjan Ranjit ,&nbsp;Jatin Sarmah ,&nbsp;Godi Sudhakar ,&nbsp;Bontha V. Babu","doi":"10.1016/j.bcmd.2024.102873","DOIUrl":"10.1016/j.bcmd.2024.102873","url":null,"abstract":"<div><h3>Background</h3><p>Sickle cell disease (SCD) registries provide crucial real-world data on demographics, epidemiology, healthcare, patient outcomes, and treatment efficacy. This paper presents findings from the Indian SCD Registry (ISCDR) on clinical manifestations, crisis episodes, disease management, and healthcare utilization in patients with SCD from 12 primary health centres (PHCs) in six tribal districts of India.</p></div><div><h3>Methods</h3><p>The ISCDR was introduced along with a three-tier screening process. Its Android-based application incorporates two electronic case report forms for patient data collection over one year. This paper presents a year's data from the ISCDR's 324 patients with SCD.</p></div><div><h3>Results</h3><p>Patients with SCD, aged one to 65 years, exhibited varied clinical manifestations. Most patients (85.2 %) were unaware of their SCD status before enrolling in ISCDR. Moderate to severe anaemia was prevalent (66.05 % and 30.56 %, respectively). Pain was a common complaint (80.86 %; CI: 76.17–85.00), while symptoms of stroke included sudden severe headaches (34.57 %; CI: 29.40–40.02). Common splenic sequestration symptoms included stomach pain (42.90 %; CI: 37.44–48.49) and abdominal tenderness (13.27 %; CI: 9.77–17.46), as a sign. Healthcare utilization was high, with 96.30 % receiving treatment and 83.64 % consuming hydroxyurea. Hospitalization occurred for 38.27 % (CI: 32.95–43.81), and 12.04 % (CI: 8.70–16.09) had blood transfusion during last year.</p></div><div><h3>Conclusions</h3><p>ISCDR serves as a dynamic digital database on SCD epidemiology, clinical aspects, treatment and healthcare utilization. Notably, many patients lacked prior awareness of their SCD status, underscoring the need for improved awareness and care management. Integrating the registry into the national programme can streamline treatment implementation, prioritize management approaches, and optimize individual benefits.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102873"},"PeriodicalIF":2.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141637396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics, laboratory features and genetic profile of hemoglobin E (HBB:c.79 G > A)/β (nucleotide -28 A > G) (HBB:c.-78 A > G) -thalassemia subjects identified from community- and hospital-recruited cohorts","authors":"Piyatida Chumnumsiriwath,&nbsp;Prissana Charoenporn,&nbsp;Sawichayaporn Jermnim,&nbsp;Pawanrat Suannum,&nbsp;Monthira Samaisombat,&nbsp;Akamon Tapprom,&nbsp;Rawisut Deoisares,&nbsp;Peerapon Wong","doi":"10.1016/j.bcmd.2024.102883","DOIUrl":"10.1016/j.bcmd.2024.102883","url":null,"abstract":"<div><p>Despite several existing laboratory-based studies of hemoglobin (Hb) E (HBB:c.79 G &gt; A)/ β (nucleotide (NT) -28 A &gt; G) (HBB:c.-78 A &gt; G) -thalassemia, no reports have ever provided clinical severity information as well as dependency of blood transfusion. Previously, a comparative study of community- and hospital-recruited Hb E/β-thalassemia subjects was conducted in the lower northern Thailand between June 2020 and December 2021. A mobile medical team visited each community hospital on-site, collecting clinical severity parameters, and conducting Hb and DNA analyses. The control included Hb E/β-thalassemia patients undergoing transfusions. Subgroup study of adult Hb E/β (NT -28 A &gt; G) -thalassemia subjects was subsequently conducted. Additional pediatric individuals were recruited from prenatal diagnosis databases. Twenty adult and nine pediatric subjects were enrolled; all were classified as having mild disease severity. Twenty-two individuals (75.9 %) were asymptomatic. Six adults (20.7 %) required blood transfusion. The mean Hb level of subjects without transfusion (23 [79.3 %]) was 10.77 ± 1.10 g/dL. Hb analysis revealed a distinct EFA pattern with low Hb F fraction. The positive impact of genetic modifiers could not be statistically demonstrated except rs7482144-<em>Xmn</em>I. These findings could provide essential information for parents carrying fetuses with Hb E/β (NT -28 A &gt; G) -thalassemia.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102883"},"PeriodicalIF":2.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141997700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanism of the apoptosis of bone marrow erythroblasts in rats under hypobaric hypoxia","authors":"","doi":"10.1016/j.bcmd.2024.102861","DOIUrl":"10.1016/j.bcmd.2024.102861","url":null,"abstract":"<div><p>This study aimed to investigate the mechanism of the apoptosis of erythroblasts in rat bone marrow after the exposure to hypobaric hypoxia. Male SD rats were randomly divided into three groups. The hypoxic group was kept in a hypobaric hypoxia chamber at a simulated altitude of 5000 m for 7 and 28 days, respectively. The control group was kept at an altitude of 2260 m. We found that myeloid: erythroid (M:E) ratio was significantly lower after hypoxia exposure and the proportions of polychromatic erythroblasts and orthochromatic erythroblasts significantly increased compared to control group, along with significant increase in the proportion of CD71+ cells and apoptosis rate. The expression levels of caspase-3, Bax, and Cyt-C in CD71+ cells were higher after hypoxia exposure than those in control group, while there was no significant difference in the expression levels of TNFR and Fas. In conclusion, after exposure to hypobaric hypoxia the proliferation of peripheral blood and bone marrow erythroblasts in rats increased, and apoptosis also increased, indicating that bone marrow erythroblasts in rats is regulated by both proliferation and apoptosis, and the mitochondrial pathway is one of the important pathways for apoptosis.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"108 ","pages":"Article 102861"},"PeriodicalIF":2.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141260720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}